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Mutations in alpha‐B‐crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts2023 European Journal of Neurology article Neuroscience Hereditary Neurological Disorders Open access
Andrea Cortese, Riccardo Curró, Riccardo Ronco, Julian C. Blake, Alexander Martin Rossor, Enrico Bugiardini, +10 more
12citations -
Longitudinal five-year follow-up by muscle MRI and high-resolution nerve ultrasound in hereditary neuropathies2026 Neurological Research and Practice article Neuroscience Hereditary Neurological Disorders Open access
Kim L. Vockert, Natalie Winter, F S Kirschmann, Jörg B. Schulz, Christiane Kuhl, Sven Nebelung, +2 more
0citations
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